The quad screen is done to evaluate your chance of carrying a baby who has any of the following conditions:
- Down syndrome (trisomy 21). Down syndrome is a chromosomal disorder that causes lifelong intellectual disability and developmental delays and, in some people, health problems.
- Trisomy 18. This is a chromosomal disorder that causes severe developmental delays and anatomic abnormalities. Trisomy 18 is often fatal by age 1.
- Spina bifida. Spina bifida is a serious birth defect that occurs when a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine.
- Anencephaly. Anencephaly is a serious birth defect in the closure of the neural tube, resulting in an underdeveloped brain and an incomplete skull.
The quad screen has traditionally been the most commonly used screening in the second trimester. It was generally used if prenatal care began during the second trimester or if first trimester screening, which involves a blood test and an ultrasound exam, wasn't available. Your health care provider might combine the results of first trimester screening with the quad screen to improve the detection rate of Down syndrome.
Prenatal cell-free DNA screening is a new screening method that your health provider might recommend in place of quad screening. Talk to your health care provider about your screening options.
Remember, the quad screen is not a diagnostic test. Test results only indicate whether you have an increased chance of carrying a baby with certain chromosomal abnormalities, such as Down syndrome, or neural tube defects, such as spina bifida. A negative quad screen doesn't guarantee that the baby won't have a chromosomal abnormality, single gene disorder or certain birth defects. If your screening test is positive, your doctor will recommend additional testing to make a diagnosis.
Before the screening, think about what the results mean to you. Consider whether the screening will be worth any anxiety it might cause, or whether you'll handle your pregnancy differently depending on the results. You might also consider what level of risk would be enough for you to choose a more invasive follow-up test.
Oct. 21, 2015
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- NINDS anencephaly information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm. Accessed Aug. 6, 2015.
- NINDS spina bifida information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.htm. Accessed Aug. 6, 2015.
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